Four diseases, PLAID, APLAID, FCAS3 and CVID and one gene (PHOSPHOLIPASE C, GAMMA-2; PLCG2): Striking clinical phenotypic overlap and difference
Makaleler > Tam Makale · 2021
Yazarlar: Necil KÜTÜKÇÜLER, Ezgi TOPYILDIZ, Afig BERDELİ, Burcu Guven Bilgin, Ayça AYKUT, Asude DURMAZ, Muhsin Özgür ÇOĞULU, Güzide AKSU, Neslihan KARACA
CLINICAL CASE REPORTS, SCI Expanded İndekslerine Giren Dergi, Uluslararası, Scopus, 2021, cilt 9, ss 2023-2031
DOI: 10.1002/ccr3.3934
Özet
We suggest PLAID, APLAID, and FCAS3 have to be considered as different aspects of the same underlying condition, because of our long-term clinical and genetical experiences. Some CVID patients have the same disease-causing mutations in PLCG2 gene, so it may be better to define all of them as “PLCG2deficiency.”.